Ossifying fibromyxoid tumor is an uncommon neoplasm with uncertain histogenesis. This tumor is usually characterized by a small, painless mass in the subcutaneous tissue or limb muscles. In this case, an ossifying fibromyxoid tumor of the mandible was reported, and relevant literature was reviewed.
Fibroma ; Fibroma, Ossifying ; Humans ; Mandible

Chondrosarcoma is extremely rare in maxillofacial soft tissue. A case diagnosed as well-differentiated chon- drosarcoma in the left parotid region was reported. The clinic pathological features, diagnosis, treatment, and prognosis were discussed with the literature review.
Bone Neoplasms ; Chondrosarcoma ; Humans ; Parotid Neoplasms ; Parotid Region

Objective To study the diagnostic utility of hemoglobin electrophoresis in neonatal cord blood screening for thalassemia. Methods Between January 2012 and December 2013, 14032 core blood samples which were from different 21 Women and Children Hospitals in Guangdong were performed for the neonatal screening with hemoglobin electrophoresis. The positive samples of hemoglobin electrophoresis were recalled for genetic testing. Results Out of 1445 (11.07%) positive samples of hemoglobin electrophoresis , 1075 (54.08%) cases were suspected for α-thalassemia, 478 (3.41%) cases were suspected for β-thalassemia, 127 (0.91%) cases were suspected for abnormal hemoglobin. With the genetic testing, 967 cases were diagnosed as α-thalassemia, 404 cases were diagnosed asβ-thalassemia. The coincidence rate ofα-thalassemia andβ-thalassemia were 89.95%and 82.96%, respectively. Besides, 124 cases were diagnosed as abnormal hemoglobin, including 38 cases of Hb E, 28 cases of Hb Q, 21 cases of Hb D, 19 cases of Hb New York, 13 cases of Hb J, and 5 cases of Hb J. Conclusion Hemoglobin electrophoresis was definitely helpful in the neonatal cord blood screening for thalassemia and abnormal hemoglobin.

Tongue osteocartilaginous choristoma is the disease that there are well-developed bone and cartilage in the tongue. This article reported a case of tongue osteocartilaginous choristoma in the oral-cavity,which is rare.
Cartilage ; Choristoma ; Humans ; Tongue Diseases

A case diagnosed as adenolymphoma and pleomorphic adenoma in unilateral parotid gland was reported. The clinic pathological features, possible mechanism, diagnosis and treatment were discussed based on previously reports in the literature.
Adenolymphoma ; Adenoma, Pleomorphic ; Humans ; Parotid Gland ; Parotid Neoplasms

Objective:To investigate the effects and potential mechanism of vitamin D supplementation on testicular function in aging rats induced by D-galactose.Methods:The aging rats were induced by D-galactose with subcutaneous injection. The animals were randomly divided into 6 groups: aging rats (DG), aging rats with low-dose vitamin D supplementation (LD), aging rats with high-dose vitamin D supplementation (HD), normal control rats(NC), normal rats with low-dose vitamin D supplementation(LN), normal rats with high-dose vitamin D supplementation (HN). The body weight, testicular weight, serum testosterone concentrations and sperm quality of the rats in each group were measured. The testis morphological changes were detected using light microscopy. The activity of superoxide dismutase (SOD) and level of malondialdehyde(MDA) were determined with spectrophotometer. The expression levels of Nrf2, GCLC, SOD2 and VDR in testis were detected by western blot.Results:At baseline, compared with NC group, testicular weight, serum testosterone level, SOD activity, Nrf2, GCLC and SOD2 expression levels were significantly decreased in DG group, while MDA level was significantly increased. After vitamin D supplementation, testicular weight, testosterone levels and SOD activity in both of HD and LD groups were significantly increased, while the MDA level was significantly decreased. The expression levels of Nrf2, GCLC, SOD2 and VDR were significantly increased.Conclusion:Vitamin D supplementation may enhance the testicular antioxidant capacity through activating Nrf2-ARE signaling pathway, and improve the testicular function in D-galactose-induced aging rats.

Objective: To quantitatively evaluate the variation of preoperative and postoperative structure and function of mitral valve after mitral valve annuloplasty(MVP) for mitral valve prolapse by real-time three-dimensional transesophageal echocardiography(RT-3D TEE). Methods: Thirty patients with mitral valve prolapse for MVP were studied, the minimum area of the three-dimensional view of the annulus(A3Dmin), three dimensional circumference(C3D), anterolateal-to-posteromedial diameter(DAlPm), anterior-to-posteior diameter(DAP), height (H), the ratio of annulus height to anterolated-to-posteromedial diameter(H/DAlPm), aorto-mitral angle(θ), the ellipticity of the the anterior-to-posterior diameter and anterolateal-to-posteromedial diameter of the annulus(E2D), the three-dimensional exposed area of the leaflet(A3DE), prolapse height(HProl), prolapse volume(VProl), non-planarity angle(θNPA) were evaluated by RT-3D TEE before and after operation. Coaptation area(CoapA), coaptation index(CPI), annulus systolic function index were calculated. Results: Compared with the preoperation, A3Dmin, C3D, DAlPm, DAP, H, H/DAlPm, A3DE, HProl, VProl, θNPA of postoperative were reduced, E2D, CoapA, CPI, annulus systolic function index of the postoperation increased, the difference of above parameters were statistically significant (P<0.05). CPI and annulus systolic function index were negatively correlated with the area of valve regurgitation area before and aftere operation (r=-0.79, P<0.01; r=-0.67, P<0.01). Furthermore, CPI was closely correlated with annulus systolic function index (r=0.63, P<0.01). Conclusions After MPV, mitral valve three-dimensional structural parameters are significantly changed, CPI and annulus systolic function are improved. CPI is closely correlated with annulus systolic function, and RT-3D TEE can quantitatively evaluate the structure and function of mitral valve before and after MPV.

OBJECTIVEDiagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia.

METHODSWhole blood cell analysis, hemoglobin analysis by capillary zone electrophoresis (CZE), Gap-PCR, polymerase chain reaction-reverse dot blot (PCR-RDB) assay and DNA sequencing.

RESULTSHb Zurich Albisrieden with α°-thalassemia lead to severe anemia. The genotype of fetus is also Hb Zurich Albisrieden with α°-thalassemia.

CONCLUSIONAbnormal hemoglobin with α-thalassemia may lead to severe anemia, Prenatal diagnosis of thalassemia has the vital significance for eugenic birth.

Adult ; Base Sequence ; Child, Preschool ; Female ; Fetal Diseases ; blood ; diagnosis ; genetics ; Hemoglobins, Abnormal ; genetics ; metabolism ; Humans ; Male ; Molecular Sequence Data ; Pregnancy ; Prenatal Diagnosis ; Young Adult ; alpha-Thalassemia ; blood ; diagnosis ; embryology ; genetics

Objective To investigate the clinical application value of longitudinal peak strain( LPS ) and peak strain dispersion ( PSD ) in evaluating left ventricular systolic function and synchrony in patients with essential hypertension . Methods Fifty‐five patients with essential hypertension were enrolled , including 30 patients with non‐left ventricular hypertrophy ( NLV H ) , 25 patients with left ventricular hypertrophy ( LV H ) , at the same time , 30 healthy volunteers were selected as the control group . Echocardiography was performed in all three groups ,and two‐dimensional dynamic images of the left ventricular apical four‐chamber ,three‐chamber ,and two‐chamber′s long‐axis view s were collected for three consecutive cardiac cycles . T he myocardial layer‐specific strain was used to measure the LPS of the left ventricular myocardium of subendocardium ,the middle layer ,the subepicardium ,and the myocardial strain and the PSD of the w hole myocardial layers . Correlation analysis and ROC curve analysis were performed . Results T he LPS in the control group ,NLV H group and LV H group were decreased in turn from inner to out myocardial layers . Compared with the control group , the LPS in the subendocardial , middle , subepicardial ,and w hole myocardial layer of NLV H group were decreased ( P ＜ 0 .05 ) , and the subepicardial myocardial LPS was slightly lower than that in the control group ,the difference was not statistically significant ( P ＞ 0 .05 ) . T he LPS in the subendocardial , middle , subepicardial ,and whole myocardial layer of LV H group were all reduced ( P＜0 .05) . Between the NLV H group and LV H group , the declines of the LPS in the subendocardial and middle layer in the LV H group were statistically significant ( P ＜0 .05) ,the LPS in the subepicardial layer and the w hole myocardial layer had no significant difference ( P ＞0 .05) . Compared with the control group ,the PSD of the NLVH group and the LVH group increased ( P ＜ 0 .05 ) . Compared with the NLV H group ,the PSD of the LV H group increased ( P ＜0 .05) . Inter‐ventricular septum thickness ( IVSd) and the LPS in the subendocardial ,middle ,subepicardial , and w hole myocardial layer were negatively correlated ( r ＝ －0 .537 ,－0 .518 ,－0 .266 ,－0 .471 ; all P ＜0 .05) , left ventricle posterior wall thickness ( LVPWd ) and the LPS in the subendocardial , middle , subepicardial ,and whole myocardial layer were negatively correlated ( r ＝ －0 .539 , －0 .524 , －0 .283 ,－0 .478 ;all P ＜0 .05) . T he area under the ROC curve ( AUC) of the LPS in the subendocardial ,middle , subepicardial ,and w hole myocardial layer and PSD for the diagnosis of hypertension were 0 .685 ,0 .652 , 0 .510 ,0 .623 ,0 .995 ,respectively . T he cut‐off values were －21 .70% ,－18 .90% ,－16 .95% ,－19 .45% , 46 .50 ms , and the sensitivities were 94 .4% , 83 .3% , 77 .8% , 94 .4% , 100% , respectively , and the specificities were 47 .8% ,52 .2% ,39 .1% ,39 .1% ,95 .7% ,respectively . Conclusions T he layer‐specific strain can quantitatively evaluate myocardial longitudinal strain in patients with essential hypertension , provide a non‐invasive test for early diagnosis of hypertensive heart disease ,and the evaluation of left ventricular myocardial stratification . PSD for evaluating primary synchronous changes in left ventricular myocardial contraction in patients with hypertension has certain advantages .

Objective:To evaluate the diagnostic capabilities of PCR-flow Fluorescence Hybridization technology in prenatal genetic diagnosis of thalassemia.Methods:8 005 cases of prenatal genetic diagnosis of thalassemia in Guangdong Women and Children Hospital from September 2017 to December 2020 were retrospectively analyzed. All samples were diagnosed by traditional genetic methods include multiple Gap-PCR, PCR-RDB, MLPA and Sanger sequencing. Meanwhile, PCR-flow Fluorescence Hybridization technology was used as a verification platform for detecting common mutation sites of thalassemia. The results were analyzed to evaluate the diagnostic capabilities of PCR-flow Fluorescence Hybridization technology compared with traditional methods in prenatal genetic diagnosis of thalassemia.Results:By traditional methods, 1 939 cases (24.22%, 1 939/8 005) were normal and 6 066 cases (75.78%, 6 066/8 005) were diagnosed as thalassemia, including 4 513 cases of α-thalassemia, 1 475 cases of β-thalassemia, and 78 cases of αβ-thalassemia. By PCR-flow Fluorescence Hybridization technology, 7 845 samples were successfully diagnosed after initial interpretation by software. Compared with traditional methods, all the sensitivity, specificity and accuracy were 100%. The other 160 samples which failed in the initial interpretation can be successfully interpreted after review or manual interpretation.Conclusion:There were no differences between the two methods on the detecting of common mutation sites of thalassemia.